granular corneal dystrophy 2

Term ID

DOID:0060444

Synonyms

• avellino corneal dystrophy
• CGD2
• combined granular-lattice corneal dystrophy
• corneal dystrophy, Avellino type
• granular corneal dystrophy type 2

Definition

An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. (2)

References

• MESH:C535474
• OMIM:607541
• ORDO:98963
• SNOMEDCT_US_2023_03_01:397568004
• UMLS_CUI:C1275685

Ontology

Human Disease   ( DOID:0060444 )